Mutagenetix > Incidental Mutation

Incidental Mutation 'R7367:Flacc1'

571852

Institutional Source

Beutler Lab

Gene Symbol

Flacc1

Ensembl Gene

ENSMUSG00000047528

Gene Name

flagellum associated containing coiled-coil domains 1

Synonyms

Als2cr12, 4933405P16Rik, 4933425F06Rik

MMRRC Submission

045451-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R7367 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58696085-58735167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58706023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 282 (I282N)

Ref Sequence

ENSEMBL: ENSMUSP00000139420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055313] [ENSMUST00000188772] [ENSMUST00000191252] [ENSMUST00000191565]

AlphaFold

Q8BVM7

Predicted Effect

probably benign
Transcript: ENSMUST00000055313
AA Change: I282N

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000062497
Gene: ENSMUSG00000047528
AA Change: I282N

Domain	Start	End	E-Value	Type
coiled coil region	125	221	N/A	INTRINSIC
coiled coil region	276	359	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188772
AA Change: I282N

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000140780
Gene: ENSMUSG00000047528
AA Change: I282N

Domain	Start	End	E-Value	Type
coiled coil region	125	221	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191252

Predicted Effect

probably benign
Transcript: ENSMUST00000191565
AA Change: I282N

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139420
Gene: ENSMUSG00000047528
AA Change: I282N

Domain	Start	End	E-Value	Type
coiled coil region	125	221	N/A	INTRINSIC
coiled coil region	276	359	N/A	INTRINSIC
low complexity region	386	404	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	A	G	3: 137,996,312 (GRCm39)	T374A	probably benign	Het
Agps	T	A	2: 75,698,657 (GRCm39)	H348Q	possibly damaging	Het
Ankrd34b	C	A	13: 92,574,795 (GRCm39)	T9K	probably benign	Het
Atp10b	A	G	11: 43,138,328 (GRCm39)	Q1203R	probably damaging	Het
B4galnt4	A	G	7: 140,644,388 (GRCm39)	N123D	probably damaging	Het
Ccn6	A	G	10: 39,034,261 (GRCm39)	C114R	probably damaging	Het
Cep250	A	G	2: 155,811,227 (GRCm39)	T358A	probably benign	Het
Cfh	A	T	1: 140,014,259 (GRCm39)	H1188Q	probably damaging	Het
Cisd1	A	G	10: 71,172,190 (GRCm39)	Y31H	probably damaging	Het
Cnga1	G	A	5: 72,762,701 (GRCm39)	S271F	possibly damaging	Het
Cntnap5a	A	G	1: 116,370,025 (GRCm39)	T881A	probably benign	Het
Cracd	T	A	5: 77,004,449 (GRCm39)	L270Q	unknown	Het
Cyp2s1	A	T	7: 25,505,398 (GRCm39)	D355E	possibly damaging	Het
Dnaaf10	A	G	11: 17,182,712 (GRCm39)	Y291C	probably damaging	Het
Dnah11	T	A	12: 117,951,177 (GRCm39)	R3044W	possibly damaging	Het
Dnah17	T	C	11: 118,006,022 (GRCm39)	D730G	probably benign	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Fsd2	A	G	7: 81,184,928 (GRCm39)	I656T	probably damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gm45871	A	T	18: 90,609,224 (GRCm39)	H154L	probably benign	Het
Golgb1	T	A	16: 36,718,908 (GRCm39)	N312K	probably benign	Het
H2ac4	A	G	13: 23,935,333 (GRCm39)	D73G	possibly damaging	Het
Hsd17b4	T	A	18: 50,288,252 (GRCm39)	H227Q	probably damaging	Het
Hsd17b6	A	T	10: 127,829,492 (GRCm39)	S237T	probably benign	Het
Htra4	A	T	8: 25,523,713 (GRCm39)	V284E	probably damaging	Het
Kcnv1	C	T	15: 44,972,638 (GRCm39)	C415Y	probably damaging	Het
Kif11	T	A	19: 37,408,789 (GRCm39)	L1037H	probably benign	Het
Lama5	T	C	2: 179,834,751 (GRCm39)	T1347A	probably benign	Het
Lrrc32	G	T	7: 98,148,086 (GRCm39)	E289*	probably null	Het
Lrrc66	T	C	5: 73,765,724 (GRCm39)	T440A	probably benign	Het
Neurl4	T	C	11: 69,799,408 (GRCm39)	L928P	probably damaging	Het
Nos2	G	A	11: 78,840,916 (GRCm39)	C788Y	possibly damaging	Het
Or2c1	A	G	16: 3,657,166 (GRCm39)	T110A	probably damaging	Het
Or4x11	A	G	2: 89,868,156 (GRCm39)	S298G	probably benign	Het
Or5m5	T	C	2: 85,814,687 (GRCm39)	W168R	possibly damaging	Het
Pafah1b3	A	G	7: 24,995,491 (GRCm39)	C156R	probably benign	Het
Pak1ip1	T	G	13: 41,162,371 (GRCm39)	N151K	probably damaging	Het
Pax7	G	A	4: 139,507,060 (GRCm39)	P326S	probably benign	Het
Pex11b	G	A	3: 96,543,994 (GRCm39)	A21T	probably damaging	Het
Pkn2	A	G	3: 142,516,488 (GRCm39)	V546A	probably benign	Het
Ppat	T	A	5: 77,067,711 (GRCm39)	R260*	probably null	Het
Ppp1r13l	C	G	7: 19,104,081 (GRCm39)	S187R	probably benign	Het
Pwp2	C	T	10: 78,018,314 (GRCm39)	G126R	probably damaging	Het
R3hdm1	A	G	1: 128,081,129 (GRCm39)	D55G	possibly damaging	Het
Rev1	A	T	1: 38,113,488 (GRCm39)	Y526*	probably null	Het
Rp1	A	G	1: 4,418,221 (GRCm39)	W964R	probably benign	Het
Sarnp	A	G	10: 128,669,247 (GRCm39)	I35V	probably damaging	Het
Sec23a	T	C	12: 59,013,785 (GRCm39)	N730S	probably benign	Het
Sh3d19	A	G	3: 86,011,535 (GRCm39)	K374E	probably benign	Het
Sh3tc2	A	G	18: 62,122,577 (GRCm39)	D446G	probably benign	Het
Sugct	T	A	13: 17,819,399 (GRCm39)	I149F	probably damaging	Het
Tle2	A	G	10: 81,416,152 (GRCm39)	N142S	probably damaging	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Trpm1	T	A	7: 63,918,549 (GRCm39)	Y1514N	probably benign	Het
Ubr4	C	T	4: 139,180,002 (GRCm39)	S259L	unknown	Het
Utp20	A	T	10: 88,631,305 (GRCm39)	L892Q	probably benign	Het
Zfp956	C	T	6: 47,940,853 (GRCm39)	T404M	probably damaging	Het

Other mutations in Flacc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01521:Flacc1	APN	1	58,709,553 (GRCm39)	missense	probably damaging	0.98
IGL02549:Flacc1	APN	1	58,698,441 (GRCm39)	missense	probably benign	0.05
IGL02647:Flacc1	APN	1	58,709,613 (GRCm39)	missense	probably benign
IGL03098:Flacc1	UTSW	1	58,730,908 (GRCm39)	missense	probably benign	0.06
PIT4504001:Flacc1	UTSW	1	58,698,258 (GRCm39)	missense	probably benign	0.20
R1147:Flacc1	UTSW	1	58,708,622 (GRCm39)	missense	probably damaging	0.99
R1147:Flacc1	UTSW	1	58,708,622 (GRCm39)	missense	probably damaging	0.99
R1959:Flacc1	UTSW	1	58,698,437 (GRCm39)	missense	possibly damaging	0.92
R1960:Flacc1	UTSW	1	58,698,437 (GRCm39)	missense	possibly damaging	0.92
R3815:Flacc1	UTSW	1	58,698,164 (GRCm39)	missense	probably damaging	0.98
R4445:Flacc1	UTSW	1	58,706,080 (GRCm39)	missense	possibly damaging	0.83
R4617:Flacc1	UTSW	1	58,700,601 (GRCm39)	missense	probably benign	0.19
R4720:Flacc1	UTSW	1	58,717,507 (GRCm39)	missense	possibly damaging	0.46
R4816:Flacc1	UTSW	1	58,709,567 (GRCm39)	missense	probably benign	0.10
R4947:Flacc1	UTSW	1	58,715,698 (GRCm39)	missense	probably benign	0.05
R4960:Flacc1	UTSW	1	58,706,965 (GRCm39)	missense	probably damaging	0.98
R4970:Flacc1	UTSW	1	58,698,441 (GRCm39)	missense	probably benign	0.05
R5018:Flacc1	UTSW	1	58,730,109 (GRCm39)	missense	probably benign
R5112:Flacc1	UTSW	1	58,698,441 (GRCm39)	missense	probably benign	0.05
R5269:Flacc1	UTSW	1	58,730,919 (GRCm39)	missense	possibly damaging	0.83
R5426:Flacc1	UTSW	1	58,706,045 (GRCm39)	nonsense	probably null
R5541:Flacc1	UTSW	1	58,697,588 (GRCm39)	missense	probably benign	0.03
R5845:Flacc1	UTSW	1	58,706,937 (GRCm39)	missense	possibly damaging	0.46
R5863:Flacc1	UTSW	1	58,730,908 (GRCm39)	missense	probably benign	0.06
R6364:Flacc1	UTSW	1	58,697,531 (GRCm39)	missense	probably damaging	0.96
R6430:Flacc1	UTSW	1	58,717,448 (GRCm39)	missense	probably damaging	0.98
R6527:Flacc1	UTSW	1	58,731,572 (GRCm39)	start codon destroyed	probably null	0.01
R6573:Flacc1	UTSW	1	58,706,003 (GRCm39)	missense	probably benign	0.27
R7459:Flacc1	UTSW	1	58,730,911 (GRCm39)	missense	possibly damaging	0.46
R7497:Flacc1	UTSW	1	58,717,467 (GRCm39)	missense	probably damaging	1.00
R8317:Flacc1	UTSW	1	58,715,707 (GRCm39)	missense	possibly damaging	0.94
R8925:Flacc1	UTSW	1	58,706,882 (GRCm39)	splice site	probably null
R9542:Flacc1	UTSW	1	58,717,504 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GACAATCCTCCTCCAACTTGGC -3'
(R):5'- TCCAGTCTGGAACCAGTACTG -3'

Sequencing Primer
(F):5'- GAGGATGAACTGCCCCTTTTAAG -3'
(R):5'- CAGTCTGGAACCAGTACTGTTTTCAG -3'

Posted On

2019-09-13